ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser)

dbSNP: rs1569226551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002518545 SCV003444421 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CLCN4 function (PMID: 25644381). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 78 of the CLCN4 protein (p.Gly78Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of CLCN4-related conditions (PMID: 25644381). ClinVar contains an entry for this variant (Variation ID: 253114). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CLCN4 protein function.
OMIM RCV000239527 SCV000297912 pathogenic Intellectual disability, X-linked 49 2018-11-07 no assertion criteria provided literature only

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